Folkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Department of Nephrology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Front Endocrinol (Lausanne). 2023 May 30;14:1163001. doi: 10.3389/fendo.2023.1163001. eCollection 2023.
Diabetic kidney disease (DKD) is a severe diabetic complication that affects up to half of the individuals with diabetes. Elevated blood glucose levels are a key underlying cause of DKD, but DKD is a complex multifactorial disease, which takes years to develop. Family studies have shown that inherited factors also contribute to the risk of the disease. During the last decade, genome-wide association studies (GWASs) have emerged as a powerful tool to identify genetic risk factors for DKD. In recent years, the GWASs have acquired larger number of participants, leading to increased statistical power to detect more genetic risk factors. In addition, whole-exome and whole-genome sequencing studies are emerging, aiming to identify rare genetic risk factors for DKD, as well as epigenome-wide association studies, investigating DNA methylation in relation to DKD. This article aims to review the identified genetic and epigenetic risk factors for DKD.
糖尿病肾病（DKD）是一种严重的糖尿病并发症，影响多达一半的糖尿病患者。高血糖水平是 DKD 的一个主要潜在原因，但 DKD 是一种复杂的多因素疾病，需要数年时间才能发展。家族研究表明，遗传因素也会增加患病风险。在过去的十年中，全基因组关联研究（GWAS）已成为识别 DKD 遗传风险因素的有力工具。近年来，GWAS 纳入了更多的参与者，从而提高了检测更多遗传风险因素的统计能力。此外，外显子组和全基因组测序研究也在兴起，旨在识别 DKD 的罕见遗传风险因素，以及全基因组关联研究，研究与 DKD 相关的 DNA 甲基化。本文旨在综述已确定的 DKD 遗传和表观遗传风险因素。
